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A point mutation was introduced into exon 4 to change alanine codon 474 to threonine (p.A474T). The loxP site flanked neomycin resistance gene cassette that was inserted into intron 3 was removed via Cre-mediated recombination in ES cells prior to blastocyst injection. This mutation causes a defect in GRE-mediated transactivation and prevents dimerization. (J:67720, J:121199)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
